Krantz ID - Search Results

1

Liu J, Krantz ID. Liu J, et al. Among authors: krantz id. Annu Rev Genomics Hum Genet. 2008;9:303-20. doi: 10.1146/annurev.genom.9.081307.164211. Annu Rev Genomics Hum Genet. 2008. PMID: 18767966 Free PMC article. Review.

2

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB. Krantz ID, et al. Am J Hum Genet. 1998 Jun;62(6):1361-9. doi: 10.1086/301875. Am J Hum Genet. 1998. PMID: 9585603 Free PMC article.

3

Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.

Lee L, Dowhanick-Morrissette J, Katz A, Jukofsky L, Krantz ID. Lee L, et al. Among authors: krantz id. Hum Genet. 2000 Dec;107(6):577-81. doi: 10.1007/s004390000431. Hum Genet. 2000. PMID: 11153911

4

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L. Krantz ID, et al. Am J Med Genet. 2001 Jun 15;101(2):120-9. Am J Med Genet. 2001. PMID: 11391654 Free PMC article.

5

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Russell KL, et al. Among authors: krantz id. Am J Med Genet. 2001 Dec 15;104(4):267-76. doi: 10.1002/ajmg.10066. Am J Med Genet. 2001. PMID: 11754058 Free PMC article. Review.

6

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.

7

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. Tonkin ET, et al. Among authors: krantz id. Hum Genet. 2004 Jul;115(2):139-48. doi: 10.1007/s00439-004-1134-6. Epub 2004 May 27. Hum Genet. 2004. PMID: 15168106 Free PMC article.

8

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. Gillis LA, et al. Among authors: krantz id. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. Am J Hum Genet. 2004. PMID: 15318302 Free PMC article.

9

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Among authors: krantz id. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.

10

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Among authors: krantz id. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.

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